A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629473



Internal ID7016295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50160208..50165322hg38UCSC Ensembl
Innerchr12:50160358..50165172hg38UCSC Ensembl
Outerchr12:50160058..50165472hg38UCSC Ensembl
chr12:50553991..50559105hg19UCSC Ensembl
Innerchr12:50554141..50558955hg19UCSC Ensembl
Outerchr12:50553841..50559255hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385115
hg195115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14478792, essv14478794, essv14478793, essv14478795
SamplesHG00443, HG02184, HG02408, HG02351
Known GenesCERS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629473
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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